Autoszomális recesszív
Caused by changes in both copies of MGP, which makes matrix Gla protein, a vitamin K-dependent protein that stops calcium depositing in cartilage and other soft tissues. The changes stop the protein working.
Tünetek és jelek
Diffuse calcification of cartilage, with short end bones of the fingers and a flat midface. Narrowing of the peripheral pulmonary arteries is common. In one family there were also brain white matter abnormalities and optic nerve atrophy.
Mit változtat a diagnózis
Heart and lung assessment, including monitoring of pulmonary artery narrowing. Genetic counselling explains the recessive inheritance, and carrier testing is available for relatives.
Vizsgált gének
Más néven
KTLS; pulmonic stenosis brachytelephalangism and calcification of cartilages; pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome
